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14 results

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Page 1
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.
Qebibo L, Davakan A, Nesson-Dauphin M, Boulali N, Siquier-Pernet K, Afenjar A, Amiel J, Bartholdi D, Barth M, Blondiaux E, Cristian I, Frazier Z, Goldenberg A, Good JM, Salussolia CL, Sahin M, McCullagh H, McDonald K, McRae A, Morrison J, Pinner J, Shinawi M, Toutain A, Vyhnálková E, Wheeler PG, Wilnai Y, Hausman-Kedem M, Coolen M, Cantagrel V, Burglen L, Lory P. Qebibo L, et al. Genet Med. 2024 Dec 12:101337. doi: 10.1016/j.gim.2024.101337. Online ahead of print. Genet Med. 2024. PMID: 39674904
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Werren EA, et al. Among authors: qebibo l. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. Brain. 2024. PMID: 39292993
Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow-up.
Jaillard A, Valence S, Vande Perre S, Dhombres F, Héron D, Billette de Villemeur T, Keren B, Afenjar A, Qebibo L, Harion M, Quenum-Miraillet G, Rodriguez D, Jouannic JM, Burglen L, Garel C. Jaillard A, et al. Among authors: qebibo l. Prenat Diagn. 2024 Jan;44(1):35-48. doi: 10.1002/pd.6495. Epub 2024 Jan 2. Prenat Diagn. 2024. PMID: 38165124
Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.
Bloch-Zupan A, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N; O-Rare consortium; Dure-Molla M, Noirrit E, Hernandez M, Joseph-Beaudin C, Lopez S, Tardieu C, Thivichon-Prince B; ERN Cranio Consortium; Dostalova T, Macek M Jr; International Consortium; Alloussi ME, Qebibo L, Morkmued S, Pungchanchaikul P, Orellana BU, Manière MC, Gérard B, Bugueno IM, Laugel-Haushalter V. Bloch-Zupan A, et al. Among authors: qebibo l. Front Physiol. 2023 May 9;14:1130175. doi: 10.3389/fphys.2023.1130175. eCollection 2023. Front Physiol. 2023. PMID: 37228816 Free PMC article.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: qebibo l. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: qebibo l. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Faqeih EA, Alghamdi MA, Almahroos MA, Alharby E, Almuntashri M, Alshangiti AM, Clément P, Calame DG, Qebibo L, Burglen L, Doco-Fenzy M, Mastrangelo M, Torella A, Manti F, Nigro V, Alban Z, Alharbi GS, Hashmi JA, Alraddadi R, Alamri R, Mitani T, Magalie B, Coban-Akdemir Z, Geckinli BB, Pehlivan D, Romito A, Karageorgou V, Martini J, Colin E, Bonneau D, Bertoli-Avella A, Lupski JR, Pastore A, Peake RWA, Dallol A, Alfadhel M, Almontashiri NAM. Faqeih EA, et al. Among authors: qebibo l. Genet Med. 2023 Feb;25(2):100323. doi: 10.1016/j.gim.2022.10.006. Epub 2022 Nov 19. Genet Med. 2023. PMID: 36401616 Free article.
New insights into CC2D2A-related Joubert syndrome.
Harion M, Qebibo L, Riquet A, Rougeot C, Afenjar A, Garel C, Louha M, Lacaze E, Audic-Gérard F, Barth M, Berquin P, Bonneau D, Bourdain F, Busa T, Colin E, Cuisset JM, Des Portes V, Dorison N, Francannet C, Héron B, Laroche C, Lebrun M, Métreau J, Odent S, Pasquier L, Trujillo YP, Perrin L, Pinson L, Rivier F, Sigaudy S, Thauvin-Robinet C, Louvier UW, Labayle O, Rodriguez D, Valence S, Burglen L. Harion M, et al. Among authors: qebibo l. J Med Genet. 2023 Jun;60(6):578-586. doi: 10.1136/jmg-2022-108754. Epub 2022 Nov 1. J Med Genet. 2023. PMID: 36319078
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine; Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network; Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Among authors: qebibo l. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
14 results